DisGeNET - a database of gene-disease associations

List of associated variants

Pfeiffer Syndrome, C0220658

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1057519047	FGFR2	1.000	0.080	10	121488055	missense variant	T/C;G	snv			1
rs121918506	FGFR2	0.882	0.080	10	121496701	missense variant	T/C;G	snv			3
rs1554927408	FGFR2	0.742	0.480	10	121515254	missense variant	C/T	snv			12
rs121913478	FGFR2	0.708	0.640	10	121515280	missense variant	T/C	snv			17
rs879253721	FGFR2	0.925	0.080	10	121517316	splice region variant	T/C	snv			2
rs121918502	FGFR2	0.790	0.160	10	121517351	missense variant	G/C	snv			9
rs121918491	FGFR2	0.716	0.440	10	121517371	synonymous variant	C/T	snv	4.0E-06		15
rs121918487	FGFR2	0.716	0.440	10	121517378	missense variant	C/A;G;T	snv			25
rs121918488	FGFR2	0.790	0.120	10	121517379	missense variant	A/C;G;T	snv			7
rs121918495	FGFR2	0.925	0.080	10	121517382	missense variant	T/G	snv			2
rs1554928884	FGFR2	1.000	0.080	10	121517384	missense variant	T/C	snv			1
rs1057519044	FGFR2	0.752	0.440	10	121517390	missense variant	C/T	snv			11
rs121918510	FGFR2	1.000	0.080	10	121517441	missense variant	T/G	snv			1
rs1358919643	FGFR2	1.000	0.080	10	121517463	missense variant	C/A;T	snv	4.0E-06		1
rs879253719	FGFR2	1.000	0.080	10	121517464	splice acceptor variant	C/T	snv			1
rs1057519041	FGFR2	0.925	0.160	10	121517465	splice acceptor variant	T/C	snv			2
rs374608214	FGFR2	0.742	0.160	10	121520010	missense variant	G/C	snv	4.0E-06	7.0E-06	13
rs886037837	FGFR2	1.000	0.080	10	121520037	inframe deletion	CGTGCTTGATCCACTGGA/-	delins			1
rs121918499	FGFR2	0.925	0.160	10	121520048	missense variant	C/A;G	snv			2
rs121918501	FGFR2	0.807	0.080	10	121520050	missense variant	A/C;G	snv			6
rs121918497	FGFR2	0.776	0.160	10	121520052	missense variant	T/G	snv			8
rs1057519037	FGFR2	0.925	0.120	10	121520084	missense variant	GC/AA;TA	mnv			2
rs776587763	FGFR2	0.790	0.120	10	121520085	missense variant	C/A;T	snv	4.0E-06; 4.0E-06		7
rs121918503	FGFR2	1.000	0.080	10	121520098	inframe deletion	GTC/-	delins			1
rs121918505	FGFR2	0.851	0.080	10	121520119	missense variant	A/G	snv			5